qGenEx® EP. Epilepsy

Within the qGenEx services, the directed exome panels allow to restrict the study to a specific group of genes according to each specialty.

qGenEx CA, analyzes 992 genes associated with Epilepsy using complete exome sequencing by NGS.

Use the search engine to find the group of genes included in the panel related to the pathology you are interested in:
GenDiseaseOMIM ID
ABCC8Diabetes mellitus, noninsulin-dependent; Diabetes mellitus, permanent neonatal; Diabetes mellitus, transient neonatal 2 ; Hyperinsulinemic hypoglycemia, familial, 1 ; Hypoglycemia of infancy, leucine-sensitive125853; 606176; 610374; 256450; 240800
ALDH7A1Epilepsy, pyridoxine-dependent266100
AMACRAlpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4614307; 214950
APOPT1Mitochondrial complex IV deficiency220110
ASAH1Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsy228000; 159950
ATP1A3Alternating hemiplegia of childhood 2 ; CAPOS syndrome; Dystonia-12614820; 601338; 128235
BOLA3Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia614299
CACNA1AEpisodic ataxia, type 2 ; Migraine, familial hemiplegic, 1 ; Migraine, familial hemiplegic, 1 with progressive cerebellar ataxia; Spinocerebellar ataxia 6108500; 141500; 183086
CACNA1E?Epileptic encephalopathy with infantile spasms (Helbig -2016 Genet Med Epub,Epub); ?Autism (O'Roak -2012 Nature 485,246)NoOMIMPhenotype
CACNA2D2Epileptic encephalopathy (Pippucci -2013 PLoS One 8,e82154); ?Schizophrenia (Purcell -2014 Nature 506 185)NoOMIMPhenotype
CHRNA2Epilepsy, nocturnal frontal lobe, type 4610353
CHRNA4Epilepsy, nocturnal frontal lobe, 1 ; {Nicotine addiction, susceptibility to}600513; 188890
CHRNB2Epilepsy, nocturnal frontal lobe, 3605375
CLDN16Hypomagnesemia 3 renal248250
CLDN19Hypomagnesemia 5 renal, with ocular involvement248190
CNTN2?Epilepsy, myoclonic, familial adult, 5615400
CPA6Epilepsy, familial temporal lobe, 5 ; Febrile seizures, familial, 11614417; 614418
CPT2CPT deficiency, hepatic, type II; CPT II deficiency, lethal neonatal; Myopathy due to CPT II deficiency; {Encephalopathy, acute, infection-induced, 4 susceptibility to}600649; 608836; 255110; 614212
CSTBEpilepsy, progressive myoclonic 1A (Unverricht and Lundborg)254800
CTSFCeroid lipofuscinosis, neuronal, 13 Kufs type615362
DEPDC5Epilepsy, familial focal, with variable foci604364
DLATPyruvate dehydrogenase E2 deficiency245348
DNAJC5Ceroid lipofuscinosis, neuronal, 4 Parry type162350
DPM2Congenital disorder of glycosylation, type Iu615042
EGFHypomagnesemia 4 renal611718
EPM2AEpilepsy, progressive myoclonic 2A (Lafora)254780
FA2HSpastic paraplegia 35 autosomal recessive612319
FARS2Combined oxidative phosphorylation deficiency 14 ; ?Spastic paraplegia 77 autosomal recessive614946; 617046
FASNIntellectual disability (Najmabadi -2011 Nature 478 57); ?Epileptic encephalopathy (Appenzeller -2014 Am J Hum Genet 95 360); ?Lennox-Gastaut syndrome (Appenzeller -2014 Am J Hum Genet 95,360)NoOMIMPhenotype
FOLR1Neurodegeneration due to cerebral folate transport deficiency613068
FOXRED1Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency256000; 252010
FXYD2Hypomagnesemia 2 renal154020
GABRB3{Epilepsy, childhood absence, susceptibility to, 5}612269
GABRG2Epilepsy, generalized, with febrile seizures plus, type 3 ; Febrile seizures, familial, 8 ; {Epilepsy, childhood absence, susceptibility to, 2}611277; 607681
GCKDiabetes mellitus, noninsulin-dependent, late onset; Diabetes mellitus, permanent neonatal; Hyperinsulinemic hypoglycemia, familial, 3 ; MODY, type II125853; 606176; 602485; 125851
GLRA1Hyperekplexia, hereditary 1 autosomal dominant or recessive149400
GLRBHyperekplexia 2 autosomal recessive614619
GLUD1Hyperinsulinism-hyperammonemia syndrome606762
GOSR2Epilepsy, progressive myoclonic 6614018
GRNAphasia, primary progressive; Ceroid lipofuscinosis, neuronal, 11 ; Frontotemporal lobar degeneration with ubiquitin-positive inclusions607485; 614706
HADH3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4231530; 609975
HNRNPULennox-Gastaut syndrome (Allen -2013 Nature 501,217) ; Fever-associated epilepsy (Hartmann -2015 Epilepsia 56,e26) ; Infantile spasms (Du -2014 BMC Med Genet 15,62) ; Speech delay,seizures and CNS anomalies (Caliebe -2010 Eur J Med Genet 53,179) ; ?Seizures (Ballif -2012 Hum Genet 131,145) ; Epileptic encephalopathy (Mefford -2011 Ann Neurol 70,974); Preaxial polydactyly (Gupta -2014 Am J Med Genet A 164A,186); Intellectual disability & seizures (Thierry -2012 Am J Med Genet A 158A,1633) ; Thin corpus callosum,psychomotor delay & seizures (Selmer -2012 Eur J Med Genet 55,715) ; ?Developmental delay and intellectual disability (King -2014 Genome Res 24,673); ?Intellectual disability (Hamdan -2014 PLoS Genet 10,e 1004772); ?Intellectual disability,epilepsy,panhypopituitarism,hypertension & other anomalies (Zhu -2015 Genet Med)NoOMIMPhenotype
HSD17B4D-bifunctional protein deficiency; Perrault syndrome 1261515; 233400
IDH2D-2-hydroxyglutaric aciduria 2613657
KCNA1Episodic ataxia/myokymia syndrome160120
KCNC1Epilepsy, progressive myoclonic 7616187
KCNMA1Generalized epilepsy and paroxysmal dyskinesia609446
KCNQ3Seizures, benign neonatal, type 2121201
LGI1Epilepsy, familial temporal lobe, 1600512
MFSD8Ceroid lipofuscinosis, neuronal, 7 ; Macular dystrophy with central cone involvement610951; 616170
NDUFAF1Mitochondrial complex I deficiency252010
NDUFAF2Leigh syndrome; Mitochondrial complex I deficiency256000; 252010
NDUFAF3Mitochondrial complex I deficiency252010
NDUFAF4Mitochondrial complex I deficiency252010
NDUFB3Mitochondrial complex I deficiency252010
NDUFB9?Mitochondrial complex I deficiency252010
NDUFS6Mitochondrial complex I deficiency252010
NDUFV2Mitochondrial complex I deficiency252010
NGLY1Congenital disorder of deglycosylation615273
NHLRC1Epilepsy, progressive myoclonic 2B (Lafora)254780
NUBPLMitochondrial complex I deficiency252010
PDHBPyruvate dehydrogenase E1-beta deficiency614111
PDP1Pyruvate dehydrogenase phosphatase deficiency608782
PDX1MODY, type IV; Pancreatic agenesis 1 ; {Diabetes mellitus, type II, susceptibility to}606392; 260370; 125853
PEX14Peroxisome biogenesis disorder 13A (Zellweger)614887
PNPOPyridoxamine 5'-phosphate oxidase deficiency610090
PRICKLE1Epilepsy, progressive myoclonic 1B612437
PRICKLE2?Autism spectrum disorder (Sowers -2013 Mol Psychiatry 18 1077) ; ?Myoclonus epilepsy (Tao -2011 Am J Hum Genet 88,138)NoOMIMPhenotype
PRRT2Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1 ; Seizures, benign familial infantile, 2602066; 128200; 605751
RRM2BMitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); Mitochondrial DNA depletion syndrome 8B (MNGIE type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5612075; 613077
SAMHD1Aicardi-Goutieres syndrome 5 ; ?Chilblain lupus 2612952; 614415
SCARB2Epilepsy, progressive myoclonic 4 with or without renal failure254900
SCN1BAtrial fibrillation, familial, 13 ; Brugada syndrome 5 ; Cardiac conduction defect, nonspecific; Epilepsy, generalized, with febrile seizures plus, type 1615377; 612838; 604233
SLC16A1Erythrocyte lactate transporter defect; Hyperinsulinemic hypoglycemia, familial, 7 ; Monocarboxylate transporter 1 deficiency245340; 610021; 616095
SLC25A1Combined D-2- and L-2-hydroxyglutaric aciduria615182
SLC6A1Myoclonic-atonic epilepsy616421
TDP2Spinocerebellar ataxia, autosomal recessive616949
TRPM6Hypomagnesemia 1 intestinal602014
TUBB2ACortical dysplasia, complex, with other brain malformations 5615763
ABCA5Hypertrichosis, congenital generalized, with gingival hyperplasia135400
ABCB1{Colchicine resistance}, 120080 (3);{Inflammatory bowel disease 13}, 612244 (3);120080;612244;
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3);612674;
ACP2?Lysosomal acid phosphatase deficiency, 200950 (1);200950;
ACVRL1Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3);600376;
ADA2
ADGRV1?Febrile seizures, familial, 4, 604352 (3);Usher syndrome, type 2C, 605472 (3);Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3);604352;605472;605472;
AIPPituitary adenoma 1, multiple types, 102200 (3);Pituitary adenoma predisposition, 102000 (3);102200;102000;
AKT2Diabetes mellitus, type II, 125853 (3);Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3);125853;240900;
ALADPorphyria, acute hepatic, 612740 (3);{Lead poisoning, susceptibility to}, 612740 (3);612740;612740;
ALPLHypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3);146300;241510;241500;146300;
ANOS1
AP3D1?Hermansky-Pudlak syndrome 10, 617050 (3);617050;
APOEAlzheimer disease-2, 104310 (3);Hyperlipoproteinemia, type III, 617347 (3);Lipoprotein glomerulopathy, 611771 (3);Sea-blue histiocyte disease, 269600 (3);{?Macular degeneration, age-related}, 603075 (3);{Coronary artery disease, severe, susceptibility to}, 617347 (3);104310;617347;611771;269600;603075;617347;
AQP4
ARHGEF15
ATP5A1?Combined oxidative phosphorylation deficiency 22, 616045 (3);?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3);616045;615228;
ATXN10Spinocerebellar ataxia 10, 603516 (3);603516;
B4GAT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3);615287;
B9D2?Meckel syndrome 10, 614175 (3);Joubert syndrome 34, 614175 (3);614175;614175;
BANK1
BCL10?Immunodeficiency 37, 616098 (3);Lymphoma, MALT, somatic, 137245 (3);{Lymphoma, follicular, somatic}, 605027 (3);{Male germ cell tumor, somatic}, 273300, (3);{Mesothelioma, somatic}, 156240 (3);{Sezary syndrome, somatic}, (3);616098;137245;605027;273300,;156240;
BLOC1S6?Hermansky-pudlak syndrome 9, 614171 (3);614171;
BRD2
C4AC4a deficiency, 614380 (3);[Blood group, Rodgers], 614374 (3);614380;614374;
CACNA1GSpinocerebellar ataxia 42, 616795 (3);616795;
CACNA1HHyperaldosteronism, familial, type IV, 617027 (3);{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3);{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3);617027;611942;611942;
CALM1Long QT syndrome 14, 616247 (3);Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3);616247;614916;
CALM2Long QT syndrome 15, 616249 (3);616249;
CARD9Candidiasis, familial, 2, autosomal recessive, 212050 (3);212050;
CASQ2Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3);611938;
CASRHypercalciuric hypercalcemia (3);Hyperparathyroidism, neonatal, 239200 (3);Hypocalcemia, autosomal dominant, 601198 (3);Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3);Hypocalciuric hypercalcemia, type I, 145980 (3);{Calcium, serum level of} (3);{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3);239200;601198;601198;145980;612899;
CCM2Cerebral cavernous malformations-2, 603284 (3);603284;
CCNQ
CD2APGlomerulosclerosis, focal segmental, 3, 607832 (3);607832;
CD40LGImmunodeficiency, X-linked, with hyper-IgM, 308230 (3);308230;
CD46{Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3);612922;
CD59Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3);612300;
CFHBasal laminar drusen, 126700 (3);Complement factor H deficiency, 609814 (3);{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3);{Macular degeneration, age-related, 4}, 610698 (3);126700;609814;235400;610698;
CFHR1{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3);{Macular degeneration, age-related, reduced risk of}, 603075 (3);235400;603075;
CFHR3{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3);{Macular degeneration, age-related, reduced risk of}, 603075 (3);235400;603075;
CHMP2BAmyotrophic lateral sclerosis 17, 614696 (3);Dementia, familial, nonspecific, 600795 (3);614696;600795;
CHRNA3{Lung cancer susceptibility 2}, 612052 (3);612052;
CLCF1Cold-induced sweating syndrome 2, 610313 (3);610313;
CLCN1Myotonia congenita, dominant, 160800 (3);Myotonia congenita, recessive, 255700 (3);Myotonia levior, recessive (3);160800;255700;
CLEC7ACandidiasis, familial, 4, autosomal recessive, 613108 (3);{Aspergillosis, susceptibility to}, 614079 (3);613108;614079;
CLPPPerrault syndrome 3, 614129 (3);614129;
CNR1
COQ5
COQ6Coenzyme Q10 deficiency, primary, 6, 614650 (3);614650;
CPOXCoproporphyria, 121300 (3);Harderoporphyria, 121300 (3);121300;121300;
CPT1ACPT deficiency, hepatic, type IA, 255120 (3);255120;
CPT1C?Spastic paraplegia 73, autosomal dominant, 616282 (3);616282;
CRB2Focal segmental glomerulosclerosis 9, 616220 (3);Ventriculomegaly with cystic kidney disease, 219730 (3);616220;219730;
CRH
CRYABCardiomyopathy, dilated, 1II, 615184 (3);Cataract 16, multiple types, 613763 (3);Myopathy, myofibrillar, 2, 608810 (3);Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3);615184;613763;608810;613869;
CSF1RLeukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3);221820;
CST3Cerebral amyloid angiopathy, 105150 (3);{Macular degeneration, age-related, 11}, 611953 (3);105150;611953;
CTLA4Autoimmune lymphoproliferative syndrome, type V, 616100 (3);{Celiac disease, susceptibility to, 3}, 609755 (3);{Diabetes mellitus, insulin-dependent, 12}, 601388 (3);{Hashimoto thyroiditis}, 140300 (3);{Systemic lupus erythematosus, susceptibility to}, 152700 (3);616100;609755;601388;140300;152700;
CYP26C1Focal facial dermal dysplasia 4, 614974 (3);614974;
CYP27B1Vitamin D-dependent rickets, type I, 264700 (3);264700;
DBHDopamine beta-hydroxylase deficiency, 223360 (3);[Dopamine-beta-hydroxylase activity levels, plasma] (3);223360;
DGUOKMitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3);Portal hypertension, noncirrhotic, 617068 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3);251880;617068;617070;
DMP1Hypophosphatemic rickets, AR, 241520 (3);241520;
DNASE1{Systemic lupus erythematosus, susceptibility to}, 152700 (3);152700;
DNASE1L3Systemic lupus erythematosus 16, 614420 (3);614420;
DNMT1Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3);Neuropathy, hereditary sensory, type IE, 614116 (3);604121;614116;
DUSP6Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3);615269;
EDNRAMandibulofacial dysostosis with alopecia, 616367 (3);{Migraine, resistance to}, 157300 (3);616367;157300;
EEF2?Spinocerebellar ataxia 26, 609306 (3);609306;
EFHC2
ELP1
ENGTelangiectasia, hereditary hemorrhagic, type 1, 187300 (3);187300;
ENPP1Arterial calcification, generalized, of infancy, 1, 208000 (3);Cole disease, 615522 (3);Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3);{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3);{Obesity, susceptibility to}, 601665 (3);208000;615522;613312;125853;601665;
EPCAMColorectal cancer, hereditary nonpolyposis, type 8, 613244 (3);Diarrhea 5, with tufting enteropathy, congenital, 613217 (3);613244;613217;
EPHX1?Hypercholanemia, familial, 607748 (3);607748;
ESR1Estrogen resistance, 615363 (3);{Atherosclerosis, susceptibility to} (3);{Breast cancer}, 114480 (1);{HDL response to hormone replacement, augmented} (3);{Migraine, susceptibility to}, 157300 (3);{Myocardial infarction, susceptibility to}, 608446 (3);615363;114480;157300;608446;
ETFAGlutaric acidemia IIA, 231680 (3);231680;
ETFDHGlutaric acidemia IIC, 231680 (3);231680;
F2Dysprothrombinemia, 613679 (3);Hypoprothrombinemia, 613679 (3);Thrombophilia due to thrombin defect, 188050 (3);{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3);{Stroke, ischemic, susceptibility to}, 601367 (3);613679;613679;188050;614390;601367;
FADDInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 (3);613759;
FAN1Interstitial nephritis, karyomegalic, 614817 (3);614817;
FASAutoimmune lymphoproliferative syndrome, type IA, 601859 (3);Squamous cell carcinoma, burn scar-related, somatic (3);{Autoimmune lymphoproliferative syndrome}, 601859 (3);601859;601859;
FBP1Fructose-1,6-bisphosphatase deficiency, 229700 (3);229700;
FCGR2A{Lupus nephritis, susceptibility to}, 152700 (3);{Malaria, severe, susceptibility to}, 611162 (3);{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3);152700;611162;219700;
FCGR2B{Malaria, resistance to}, 611162 (3);{Systemic lupus erythematosus, susceptibility to}, 152700 (3);611162;152700;
FEZF1Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3);616030;
FGF17Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3);615270;
FLRT3Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3);615271;
FOXP3Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3);{Diabetes mellitus, type I, susceptibility to}, 222100 (3);304790;222100;
FXNFriedreich ataxia with retained reflexes, 229300 (3);Friedreich ataxia, 229300 (3);229300;229300;
GAD2
GAL?Epilepsy, familial temporal lobe, 8, 616461 (3);616461;
GALCKrabbe disease, 245200 (3);245200;
GAS1
GDF2Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3);615506;
GFM2
GIPC3Deafness, autosomal recessive 15, 601869 (3);601869;
GLAFabry disease, 301500 (3);Fabry disease, cardiac variant, 301500 (3);301500;301500;
GLRX5Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3);Spasticity, childhood-onset, with hyperglycinemia, 616859 (3);616860;616859;
GNA11Hypocalcemia, autosomal dominant 2, 615361 (3);Hypocalciuric hypercalcemia, type II, 145981 (3);615361;145981;
GPX4Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3);250220;
GSNAmyloidosis, Finnish type, 105120 (3);105120;
GUCY1A3Moyamoya 6 with achalasia, 615750 (3);615750;
GYS1Glycogen storage disease 0, muscle, 611556 (3);611556;
HLA-B{Abacavir hypersensitivity, susceptibility to} (3);{Drug-induced liver injury due to flucloxacillin} (3);{Spondyloarthropathy, susceptibility to, 1}, 106300 (3);{Stevens-Johnson syndrome, susceptibility to}, 608579 (3);{Synovitis, chronic, susceptibility to} (3);{Toxic epidermal necrolysis, susceptibility to}, 608579 (3);106300;608579;608579;
HLA-DQA1{Celiac disease, susceptibility to}, 212750 (3);212750;
HLA-DQB1{Celiac disease, susceptibility to}, 212750 (3);{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3);{Multiple sclerosis, susceptibility to, 1}, 126200 (3);212750;123400;126200;
HMGCS2HMG-CoA synthase-2 deficiency, 605911 (3);605911;
HP[Anhaptoglobinemia], 614081 (3);[Hypohaptoglobinemia], 614081 (3);614081;614081;
HS6ST1{Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3);614880;
HTR2C
HTR3A
HTRA1CARASIL syndrome, 600142 (3);Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3);{Macular degeneration, age-related, 7}, 610149 (3);{Macular degeneration, age-related, neovascular type}, 610149 (3);600142;616779;610149;610149;
HTRA23-methylglutaconic aciduria, type VIII, 617248 (3);{Parkinson disease 13}, 610297 (3);617248;610297;
IFNAR2?Immunodeficiency 45, 616669 (3);{Hepatitis B virus, susceptibility to}, 610424 (3);616669;610424;
IL10{Graft-versus-host disease, protection against}, 614395 (3);{HIV-1, susceptibility to}, 609423 (3);{Rheumatoid arthritis, progression of}, 180300 (3);614395;609423;180300;
IL12BImmunodeficiency 29, mycobacteriosis, 614890 (3);614890;
IL17F?Candidiasis, familial, 6, autosomal dominant, 613956 (3);613956;
IL17RAImmunodeficiency 51, 613953 (3);613953;
IL17RCCandidiasis, familial, 9, 616445 (3);616445;
IL17RDHypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3);615267;
IL23R{Inflammatory bowel disease 17, protection against}, 612261 (3);{Psoriasis, protection against}, 605606 (3);612261;605606;
IL6{Crohn disease-associated growth failure}, 266600 (3);{Diabetes, susceptibility to}, 222100, 125853 (3);{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3);{Kaposi sarcoma, susceptibility to}, 148000 (3);{Rheumatoid arthritis, systemic juvenile}, 604302 (3);266600;125853;108010;148000;604302;
ITPR3{Diabetes, type 1, susceptibility to}, 222100 (2);222100;
JAK2Erythrocytosis, somatic, 133100 (3);Leukemia, acute myeloid, somatic, 601626 (3);Myelofibrosis, somatic, 254450 (3);Polycythemia vera, somatic, 263300 (3);Thrombocythemia 3, 614521 (3);{Budd-Chiari syndrome, somatic}, 600880 (3);133100;601626;254450;263300;614521;600880;
JPH3?Huntington disease-like 2, 606438 (3);606438;
JRK
KCNAB1
KCND2
KCND3Brugada syndrome 9, 616399 (3);Spinocerebellar ataxia 19, 607346 (3);616399;607346;
KCNH5
KCNJ5Hyperaldosteronism, familial, type III, 613677 (3);Long QT syndrome 13, 613485 (3);613677;613485;
KISS1R?Precocious puberty, central, 1, 176400 (3);Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3);176400;614837;
KRIT1Cavernous malformations of CNS and retina, 116860 (3);Cerebral cavernous malformations-1, 116860 (3);Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3);116860;116860;116860;
LARS2?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3);Perrault syndrome 4, 615300 (3);617021;615300;
LGI4Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3);617468;
LMX1BNail-patella syndrome, 161200 (3);161200;
MC1R[Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3);[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3);[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3);{Albinism, oculocutaneous, type II, modifier of}, 203200 (3);{Melanoma, cutaneous malignant, 5}, 613099 (3);{UV-induced skin damage}, 266300 (3);613098;266300;266300;203200;613099;266300;
MC2RGlucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3);202200;
MC3R{Mycobacterium tuberculosis, protection against}, 607948 (3);{Obesity, severe, susceptibility to, BMIQ9}, 602025 (3);607948;602025;
ME2
MECRDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3);617282;
MEFVFamilial Mediterranean fever, AD, 134610 (3);Familial Mediterranean fever, AR, 249100 (3);134610;249100;
MEGF10Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3);614399;614399;
MEN1Adrenal adenoma, somatic (3);Angiofibroma, somatic (3);Carcinoid tumor of lung (3);Lipoma, somatic (3);Multiple endocrine neoplasia 1, 131100 (3);Parathyroid adenoma, somatic (3);131100;
MIB1Left ventricular noncompaction 7, 615092 (3);615092;
MLH3Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3);Colorectal cancer, somatic, 114500 (3);{Endometrial cancer, susceptibility to}, 608089 (3);614385;114500;608089;
MPLMyelofibrosis with myeloid metaplasia, somatic, 254450 (3);Thrombocythemia 2, 601977 (3);Thrombocytopenia, congenital amegakaryocytic, 604498 (3);254450;601977;604498;
MRAPGlucocorticoid deficiency 2, 607398 (3);607398;
NAGSN-acetylglutamate synthase deficiency, 237310 (3);237310;
NAPBAmyotrophy, hereditary neuralgic, 162100 (3);Leukemia, acute myeloid, therapy-related (1);Ovarian carcinoma (1);162100;
NAXEEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3);617186;
NBASInfantile liver failure syndrome 2, 616483 (3);Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3);616483;614800;
NDUFA8
NEK9?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3);Lethal congenital contracture syndrome 10, 617022 (3);Nevus comedonicus, somatic, 617025 (3);614262;617022;617025;
NEUROD1Maturity-onset diabetes of the young 6, 606394 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3);606394;125853;
NIPA1Spastic paraplegia 6, autosomal dominant, 600363 (3);600363;
NIPA2
NNTGlucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3);614736;
NOD2Blau syndrome, 186580 (3);{Inflammatory bowel disease 1, Crohn disease}, 266600 (3);{Psoriatic arthritis, susceptibility to}, 607507 (2);{Yao syndrome}, 617321 (3);186580;266600;607507;617321;
NOL3Myoclonus, familial cortical, 614937 (3);614937;
NSMFHypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3);614838;
OAS1{Diabetes mellitus, type 1, susceptibility to}, 222100 (3);222100;
OPLAH5-oxoprolinase deficiency, 260005 (3);260005;
OPRM1
PCSK1Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptibility to, BMIQ12}, 612362 (3);600955;612362;
PDCD10Cerebral cavernous malformations 3, 603285 (3);603285;
PDGFBBasal ganglia calcification, idiopathic, 5, 615483 (3);Dermatofibrosarcoma protuberans, 607907 (3);Meningioma, SIS-related, 607174 (3);615483;607907;607174;
PDYNSpinocerebellar ataxia 23, 610245 (3);610245;
PFKMGlycogen storage disease VII, 232800 (3);232800;
PHYKPL[?Phosphohydroxylysinuria], 615011 (3);615011;
PIGQ
PMS1
PNKD
PNPLA8?Mitochondrial myopathy with lactic acidosis, 251950 (3);251950;
PNPT1Combined oxidative phosphorylation deficiency 13, 614932 (3);Deafness, autosomal recessive 70, 614934 (3);614932;614934;
POLR1AAcrofacial dysostosis, Cincinnati type, 616462 (3);616462;
POMCObesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3);{Obesity, early-onset, susceptibility to}, 601665 (3);609734;601665;
PPA2?Sudden cardiac failure, alcohol-induced, 617223 (3);Sudden cardiac failure, infantile, 617222 (3);617223;617222;
PPT2
PRDM8?Epilepsy, progressive myoclonic, 10, 616640 (3);616640;
PRKAG2Cardiomyopathy, hypertrophic 6, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3);600858;261740;194200;
PROK2Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3);610628;
PROS1Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3);Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3);612336;614514;
PSEN2Alzheimer disease-4, 606889 (3);Cardiomyopathy, dilated, 1V, 613697 (3);606889;613697;
PTF1APancreatic agenesis 2, 615935 (3);Pancreatic and cerebellar agenesis, 609069 (3);615935;609069;
PTPN22{Diabetes, type 1, susceptibility to}, 222100 (3);{Rheumatoid arthritis, susceptibility to}, 180300 (3);{Systemic lupus erythematosus susceptibility to}, 152700 (3);222100;180300;152700;
RAPSNFetal akinesia deformation sequence, 208150 (3);Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3);208150;616326;
RBP4Microphthalmia, isolated, with coloboma 10, 616428 (3);Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3);616428;615147;
ROBO3Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3);607313;
RTN2Spastic paraplegia 12, autosomal dominant, 604805 (3);604805;
RYR2Arrhythmogenic right ventricular dysplasia 2, 600996 (3);Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3);600996;604772;
SCN10AEpisodic pain syndrome, familial, 2, 615551 (3);615551;
SCN11AEpisodic pain syndrome, familial, 3, 615552 (3);Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3);615552;615548;
SCN2BAtrial fibrillation, familial, 14, 615378 (3);615378;
SCN5AAtrial standstill, digenic (GJA5/SCN5A), 108770 (3);Atrial fibrillation, familial, 10, 614022 (3);Atrial standstill, digenic (GJA5/SCN5A), 108770 (3);Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, familial, 1, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3);108770;614022;108770;601144;601154;113900;113900;603830;608567;603829;272120;
SDHAF1Mitochondrial complex II deficiency, 252011 (3);252011;
SEMA3A{Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3);614897;
SERPINI1Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3);604218;
SGCEDystonia-11, myoclonic, 159900 (3);159900;
SH2D1ALymphoproliferative syndrome, X-linked, 1, 308240 (3);308240;
SLC12A2
SLC12A3Gitelman syndrome, 263800 (3);263800;
SLC17A8Deafness, autosomal dominant 25, 605583 (3);605583;
SLC22A5Carnitine deficiency, systemic primary, 212140 (3);212140;
SLC25A4Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3);Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3);617184;615418;609283;
SLC4A5
SPRY4Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3);615266;
SPTLC2Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3);613640;
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3);Myopathy, distal, with rimmed vacuoles, 617158 (3);Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3);Paget disease of bone 3, 167250 (3);616437;617158;617145;167250;
STAT1Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3);Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3);Immunodeficiency 31C, autosomal dominant, 614162 (3);614892;613796;614162;
STAT2Immunodeficiency 44, 616636 (3);616636;
STAT4{Systemic lupus erythematosus, susceptibility to, 11}, 612253 (3);612253;
STX16Pseudohypoparathyroidism, type IB, 603233 (3);603233;
TACR3Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3);614840;
TBC1D32
TBX19Adrenocorticotropic hormone deficiency, 201400 (3);201400;
TCIRG1Osteopetrosis, autosomal recessive 1, 259700 (3);259700;
TDP1Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3);607250;
THPOThrombocythemia 1, 187950 (3);187950;
TLR4
TNF{Asthma, susceptibility to}, 600807 (3);{Dementia, vascular, susceptibility to} (3);{Malaria, cerebral, susceptibility to}, 611162 (3);{Migraine without aura, susceptibility to}, 157300 (3);{Septic shock, susceptibility to} (3);600807;611162;157300;
TNFRSF1APeriodic fever, familial, 142680 (3);{Multiple sclerosis, susceptibility to, 5}, 614810 (3);142680;614810;
TP53Adrenal cortical carcinoma, 202300 (3);Breast cancer, 114480 (3);Choroid plexus papilloma, 260500 (3);Colorectal cancer, 114500 (3);Hepatocellular carcinoma, 114550 (3);Li-Fraumeni syndrome, 151623 (3);Nasopharyngeal carcinoma, 607107 (3);Osteosarcoma, 259500 (3);Pancreatic cancer, 260350 (3);{Basal cell carcinoma 7}, 614740 (3);{Glioma susceptibility 1}, 137800 (3);202300;114480;260500;114500;114550;151623;607107;259500;260350;614740;137800;
TRAF3{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3);614849;
TRAF3IP2?Candidiasis, familial, 8, 615527 (3);{Psoriasis susceptibility 13}, 614070 (3);615527;614070;
TRAPPC10
TRDNVentricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3);615441;
TREM2Nasu-Hakola disease, 221770 (3);221770;
TRIM2Charcot-Marie-Tooth disease, type 2R, 615490 (3);615490;
TSEN2Pontocerebellar hypoplasia type 2B, 612389 (3);612389;
TSEN34?Pontocerebellar hypoplasia type 2C, 612390 (3);612390;
TSPEAR?Deafness, autosomal recessive 98, 614861 (3);614861;
TTRAmyloidosis, hereditary, transthyretin-related, 105210 (3);Carpal tunnel syndrome, familial, 115430 (3);[Dystransthyretinemic hyperthyroxinemia], 145680 (3);105210;115430;145680;
TYROBPNasu-Hakola disease, 221770 (3);221770;
U2AF1
UCHL1Spastic paraplegia 79, autosomal recessive, 615491 (3);{?Parkinson disease 5, susceptibility to}, 613643 (3);615491;613643;
USP18Pseudo-TORCH syndrome 2, 617397 (3);617397;
VDR?Osteoporosis, involutional, 166710 (1);Rickets, vitamin D-resistant, type IIA, 277440 (3);166710;277440;
VPS13AChoreoacanthocytosis, 200150 (3);200150;
XKMcLeod syndrome with or without chronic granulomatous disease, 300842 (3);300842;
XPR1Basal ganglia calcification, idiopathic, 6, 616413 (3);616413;
AARSCharcot-Marie-Tooth disease, axonal, type 2N; Epileptic encephalopathy, early infantile, 29613287; 616339
ABATGABA-transaminase deficiency613163
ACTBBaraitser-Winter syndrome 1 ; ?Dystonia, juvenile-onset243310; 607371
ACY1Aminoacylase 1 deficiency609924
ADCK3Coenzyme Q10 deficiency, primary, 4612016
ADSLAdenylosuccinase deficiency103050
ALG1Congenital disorder of glycosylation, type Ik608540
ALG11Congenital disorder of glycosylation, type Ip613661
ALG13Epileptic encephalopathy, early infantile, 36300884
ALG3Congenital disorder of glycosylation, type Id601110
ALG6Congenital disorder of glycosylation, type Ic603147
AMTGlycine encephalopathy605899
ARHGEF9Epileptic encephalopathy, early infantile, 8300607
ARXEpileptic encephalopathy, early infantile, 1 ; Hydranencephaly with abnormal genitalia; Lissencephaly, X-linked 2 ; Mental retardation, X-linked 29 and others; Partington syndrome; Proud syndrome308350; 300215; 300419; 309510; 300004
ATP1A2Alternating hemiplegia of childhood; Migraine, familial basilar; Migraine, familial hemiplegic, 2104290; 602481
ATP6AP2?Parkinsonism with spasticity, X-linked; ?Mental retardation, X-linked, syndromic, Hedera type300911; 300423
ATP7AMenkes disease; Occipital horn syndrome; Spinal muscular atrophy, distal, X-linked 3309400; 304150; 300489
ATRXAlpha-thalassemia myelodysplasia syndrome, somatic; Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked300448; 301040; 309580
AUTS2Mental retardation, autosomal dominant 26615834
BRAT1Rigidity and multifocal seizure syndrome, lethal neonatal614498
BTDBiotinidase deficiency253260
CASKFG syndrome 4 ; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Mental retardation, with or without nystagmus300422; 300749
CDKL5Epileptic encephalopathy, early infantile, 2300672
CHD2Epileptic encephalopathy, childhood-onset615369
CLN3Ceroid lipofuscinosis, neuronal, 3204200
CLN5Ceroid lipofuscinosis, neuronal, 5256731
CLN6Ceroid lipofuscinosis, neuronal, 6 ; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset601780; 204300
CLN8Ceroid lipofuscinosis, neuronal, 8 ; Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant600143; 610003
CNNM2Hypomagnesemia 6 renal; Hypomagnesemia, seizures, and mental retardation613882; 616418
CNTNAP2Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1 ; {Autism susceptibility 15}610042; 612100
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with or without ocular anomalies; Porencephaly 1 ; ?Retinal arteries, tortuosity of; {Hemorrhage, intracerebral, susceptibility to}611773; 607595; 175780; 180000; 614519
COL4A3BPMental retardation, autosomal dominant 34616351
COQ2Coenzyme Q10 deficiency, primary, 1 ; {Multiple system atrophy, susceptibility to}607426; 146500
COQ4Coenzyme Q10 deficiency, primary, 7616276
CPS1Carbamoylphosphate synthetase I deficiency; {Pulmonary hypertension, neonatal, susceptibility to}; {Venoocclusive disease after bone marrow transplantation}237300; 615371; -
CTSDCeroid lipofuscinosis, neuronal, 10610127
CUL4BMental retardation, X-linked, syndromic 15 (Cabezas type)300354
D2HGDHD-2-hydroxyglutaric aciduria600721
DCXLissencephaly, X-linked; Subcortical laminal heteropia, X-linked300067
DNM1Epileptic encephalopathy, early infantile, 31616346
DOCK7Epileptic encephalopathy, early infantile, 23615859
DPAGT1Congenital disorder of glycosylation, type Ij; Myasthenic syndrome, congenital, 13 with tubular aggregates608093; 614750
DPM1Congenital disorder of glycosylation, type Ie608799
DPYD5-fluorouracil toxicity; Dihydropyrimidine dehydrogenase deficiency274270
DYNC1H1Charcot-Marie-Tooth disease, axonal, type 20 ; Mental retardation, autosomal dominant 13 ; Spinal muscular atrophy, lower extremity-predominant 1 AD614228; 614563; 158600
DYRK1AMental retardation, autosomal dominant 7614104
EEF1A2Epileptic encephalopathy, early infantile, 33 ; Mental retardation, autosomal dominant 38616409; 616393
EHMT1Kleefstra syndrome610253
FGD1Aarskog-Scott syndrome; Mental retardation, X-linked syndromic 16305400
FLNACardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; FG syndrome 2 ; Frontometaphyseal dysplasia; Heterotopia, periventricular; Heterotopia, periventricular, ED variant; Intestinal pseudoobstruction, neuronal; Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia314400; 300048; 300321; 305620; 300049; 300537; 309350; 311300; 304120; 300244
FOXG1Rett syndrome, congenital variant613454
GABRA1Epileptic encephalopathy, early infantile, 19 ; {Epilepsy, childhood absence, susceptibility to, 4}; {Epilepsy, juvenile myoclonic, susceptibility to, 5}615744; 611136
GAMTCerebral creatine deficiency syndrome 2612736
GCSHGlycine encephalopathy605899
GLDCGlycine encephalopathy605899
GNAO1Epileptic encephalopathy, early infantile, 17615473
GPC3Simpson-Golabi-Behmel syndrome, type 1 ; Wilms tumor, somatic312870; 194070
GPHNMolybdenum cofactor deficiency C615501
GRIA3Mental retardation, X-linked 94300699
GRIN1Mental retardation, autosomal dominant 8614254
GRIN2AEpilepsy, focal, with speech disorder and with or without mental retardation245570
GRIN2BEpileptic encephalopathy, early infantile, 27 ; Mental retardation, autosomal dominant 6616139; 613970
HCN1Epileptic encephalopathy, early infantile, 24615871
HDAC4No OMIM phenotypeNoOMIMPhenotype
HLCSHolocarboxylase synthetase deficiency253270
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency; ?Mental retardation, X-linked syndromic 10300438; 300220
IER3IP1Microcephaly, epilepsy, and diabetes syndrome614231
IFIH1Aicardi-Goutieres syndrome 7 ; Singleton-Merten syndrome 1615846; 182250
IQSEC2Mental retardation, X-linked 1/78309530
JAM3Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730
KANSL1Koolen-De Vries syndrome610443
KCNA2Epileptic encephalopathy, early infantile, 32616366
KCNB1Epileptic encephalopathy, early infantile, 26616056
KCNH1Temple-Baraitser syndrome; Zimmermann-Laband syndrome 1611816; 135500
KCNJ10Enlarged vestibular aqueduct, digenic; SESAME syndrome600791; 612780
KCNJ11Diabetes mellitus, permanent neonatal, with neurologic features; Diabetes mellitus, transient neonatal, 3 ; Diabetes, permanent neonatal; Hyperinsulinemic hypoglycemia, familial, 2 ; Maturity-onset diabetes of the young, type 13 ; {Diabetes mellitus, type 2 susceptibility to}606176; 610582; 601820; 616329; 125853
KCNQ2Epileptic encephalopathy, early infantile, 7 ; Myokymia; Seizures, benign neonatal, 1613720; 121200
KCNT1Epilepsy, nocturnal frontal lobe, 5 ; Epileptic encephalopathy, early infantile, 14615005; 614959
KCTD7Epilepsy, progressive myoclonic 3 with or without intracellular inclusions611726
KDM5CMental retardation, X-linked, syndromic, Claes-Jensen type300534
KIAA2022Mental retardation, X-linked 98300912
KPTNMental retardation, autosomal recessive 41615637
LIASHyperglycinemia, lactic acidosis, and seizures614462
MBD5Mental retardation, autosomal dominant 1156200
MECP2Encephalopathy, neonatal severe; Mental retardation, X-linked syndromic, Lubs type; Mental retardation, X-linked, syndromic 13 ; Rett syndrome; Rett syndrome, atypical; Rett syndrome, preserved speech variant; {Autism susceptibility, X-linked 3}300673; 300260; 300055; 312750; 300496
MED12Lujan-Fryns syndrome; Ohdo syndrome, X-linked; Opitz-Kaveggia syndrome309520; 300895; 305450
MEF2CChromosome 5q14,3 deletion syndrome; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443
MOCS1Molybdenum cofactor deficiency A252150
MOCS2Molybdenum cofactor deficiency B252160
MPDU1Congenital disorder of glycosylation, type If609180
MTHFRHomocystinuria due to MTHFR deficiency; {Neural tube defects, susceptibility to}; {Schizophrenia, susceptibility to}; {Thromboembolism, susceptibility to}; {Vascular disease, susceptibility to}236250; 601634; 181500; 188050; -
MTORSmith-Kingsmore syndrome616638
NDUFA1Mitochondrial complex I deficiency252010
NDUFA11Mitochondrial complex I deficiency252010
NDUFAF5Mitochondrial complex 1 deficiency252010
NDUFS1Mitochondrial complex I deficiency252010
NDUFS2Mitochondrial complex I deficiency252010
NDUFS3Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency256000; 252010
NDUFS4Leigh syndrome; Mitochondrial complex I deficiency256000; 252010
NDUFV1Mitochondrial complex I deficiency252010
NECAP1?Epileptic encephalopathy, early infantile, 21615833
NEDD4L{Essential hypertension, association with} (Russo -2005 Hypertension 46,488) ; Epilepsy,photosensitive generalised (Dibbens (2007),Genes Brain Behav 6,750); Infantile spasms (Allen -2013 Nature 501,217) ; Impaired ENaC regulation (Fouladkou -2004 Am J Physiol Renal Physiol 287,F550)NoOMIMPhenotype
NRXN1Pitt-Hopkins-like syndrome 2 ; {Schizophrenia, susceptibility to, 17}614325; 614332
OFD1Joubert syndrome 10 ; Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2 ; ?Retinitis pigmentosa 23300804; 311200; 300209; 300424
OPHN1Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance300486
PAK3Mental retardation, X-linked 30/47300558
PCPyruvate carboxylase deficiency266150
PCDH19Epileptic encephalopathy, early infantile, 9300088
PDHA1Pyruvate dehydrogenase E1-alpha deficiency312170
PET100Mitochondrial complex IV deficiency220110
PEX1Heimler syndrome 1 ; Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B (NALD/IRD)234580; 214100; 601539
PEX10Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B614870; 614871
PEX12Peroxisome biogenesis disorder 3A (Zellweger); Peroxisome biogenesis disorder 3B614859; 266510
PEX13Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B614883; 614885
PEX16Peroxisome biogenesis disorder 8A, (Zellweger); Peroxisome biogenesis disorder 8B614876; 614877
PEX19Peroxisome biogenesis disorder 12A (Zellweger)614886
PEX26Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B614872; 614873
PEX3Peroxisome biogenesis disorder 10A (Zellweger)614882
PEX5Peroxisome biogenesis disorder 2A (Zellweger); Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata, type 5214110; 202370; 616716
PEX6Heimler syndrome 2 ; Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B616617; 614862; 614863
PGAP3Hyperphosphatasia with mental retardation syndrome 4615716
PHF6Borjeson-Forssman-Lehmann syndrome301900
PHGDHNeu-Laxova syndrome 1 ; Phosphoglycerate dehydrogenase deficiency256520; 601815
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome 2 ; Paroxysmal nocturnal hemoglobinuria, somatic300868; 300818
PIGNMultiple congenital anomalies-hypotonia-seizures syndrome 1614080
PIGOHyperphosphatasia with mental retardation syndrome 2614749
PIGTMultiple congenital anomalies-hypotonia-seizures syndrome 3 ; ?Paroxysmal nocturnal hemoglobinuria 2615398; 615399
PLA2G6Infantile neuroaxonal dystrophy 1 ; Neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 autosomal recessive256600; 610217; 612953
PLCB1Epileptic encephalopathy, early infantile, 12613722
PLP1Pelizaeus-Merzbacher disease; Spastic paraplegia 2 X-linked312080; 312920
PMM2Congenital disorder of glycosylation, type Ia212065
PNKPAtaxia-oculomotor apraxia 4 ; Microcephaly, seizures, and developmental delay616267; 613402
POLGMitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1 ; Progressive external ophthalmoplegia, autosomal recessive 1203700; 613662; 607459; 157640; 258450
PPP2R1AMental retardation, autosomal dominant 36616362
PPT1Ceroid lipofuscinosis, neuronal, 1256730
PQBP1Renpenning syndrome309500
PURAMental retardation, autosomal dominant 31616158
PYCR2Leukodystrophy, hypomyelinating, 10616420
QARSMicrocephaly, progressive, seizures, and cerebral and cerebellar atrophy615760
RAB39BMental retardation, X-linked 72 ; ?Waisman syndrome300271; 311510
RARS2Pontocerebellar hypoplasia, type 6611523
RNASEH2AAicardi-Goutieres syndrome 4610333
RNASEH2BAicardi-Goutieres syndrome 2610181
RNASEH2CAicardi-Goutieres syndrome 3610329
ROGDIKohlschutter-Tonz syndrome226750
RPS6KA3Coffin-Lowry syndrome; Mental retardation, X-linked 19303600; 300844
SCN1ADravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2 ; Febrile seizures, familial, 3A; Migraine, familial hemiplegic, 3607208; 604403; 609634
SCN2AEpileptic encephalopathy, early infantile, 11 ; Seizures, benign familial infantile, 3613721; 607745
SCN8AEpileptic encephalopathy, early infantile, 13 ; ?Cognitive impairment with or without cerebellar ataxia614558; 614306
SIK1Epileptic encephalopathy, early infantile, 30616341
SLC13A5Epileptic encephalopathy, early infantile, 25615905
SLC19A3Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome238970
SLC25A22Epileptic encephalopathy, early infantile, 3609304
SLC2A1Dystonia 9 ; GLUT1 deficiency syndrome 1 infantile onset, severe; GLUT1 deficiency syndrome 2 childhood onset; Stomatin-deficient cryohydrocytosis with neurologic defects; {Epilepsy, idiopathic generalized, susceptibility to, 12}601042; 606777; 612126; 608885; 614847
SLC35A2Congenital disorder of glycosylation, type IIm300896
SLC6A8Cerebral creatine deficiency syndrome 1300352
SLC9A6Mental retardation, X-linked syndromic, Christianson type300243
SMARCA2Nicolaides-Baraitser syndrome601358
SMC1ACornelia de Lange syndrome 230059
SMSMental retardation, X-linked, Snyder-Robinson type309583
SPTAN1Epileptic encephalopathy, early infantile, 5613477
ST3GAL3Epileptic encephalopathy, early infantile, 15 ; Mental retardation, autosomal recessive 12615006; 611090
ST3GAL5Amish infantile epilepsy syndrome609056
STXBP1Epileptic encephalopathy, early infantile, 4612164
SUOXSulfite oxidase deficiency272300
SYN1Epilepsy, X-linked, with variable learning disabilities and behavior disorders300491
SYNGAP1Mental retardation, autosomal dominant 5612621
SYPMental retardation, X-linked 96300802
SZT2Epileptic encephalopathy, early infantile, 18615476
TBC1D24Deafness , autosomal recessive 86 ; Deafness, autosomal dominant 65 ; DOOR syndrome; Epileptic encephalopathy, early infantile, 16 ; Myoclonic epilepsy, infantile, familial614617; 616044; 220500; 615338; 605021
TBCEHypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1241410; 244460
TCF4Corneal dystrophy, Fuchs endothelial, 3 ; Pitt-Hopkins syndrome613267; 610954
TPP1Ceroid lipofuscinosis, neuronal, 2 ; Spinocerebellar ataxia, autosomal recessive 7204500; 609270
TREX1Aicardi-Goutieres syndrome 1 dominant and recessive; Chilblain lupus; Vasculopathy, retinal, with cerebral leukodystrophy; {Systemic lupus erythematosus, susceptibility to}225750; 610448; 192315; 152700
TSC1Lymphangioleiomyomatosis; Tuberous sclerosis-1606690; 191100
TSC2Lymphangioleiomyomatosis, somatic; Tuberous sclerosis-2606690; 613254
TUBG1Cortical dysplasia, complex, with other brain malformations 4615412
UBE3AAngelman syndrome105830
WWOXEpileptic encephalopathy, early infantile, 28 ; Esophageal squamous cell carcinoma, somatic; Spinocrebellar ataxia, autosomal recessive 12616211; 133239; 614322
ZEB2Mowat-Wilson syndrome235730
A2MAlpha-2-macroglobulin deficiency, 614036 (1);{Alzheimer disease, susceptibility to}, 104300 (3);614036;104300;
AAASAchalasia-addisonianism-alacrimia syndrome, 231550 (3);231550;
AASSHyperlysinemia, 238700 (3);Saccharopinuria, 268700 (1);238700;268700;
ACADMAcyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3);201450;
ACADSAcyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3);201470;
ACADSB2-methylbutyrylglycinuria, 610006 (3);610006;
ACTA2Aortic aneurysm, familial thoracic 6, 611788 (3);Moyamoya disease 5, 614042 (3);Multisystemic smooth muscle dysfunction syndrome, 613834 (3);611788;614042;613834;
ADAM22?Epileptic encephalopathy, early infantile, 61, 617933 (3);617933;
ADAMTSL2Geleophysic dysplasia 1, 231050 (3);231050;
ADD3Cerebral palsy, spastic quadriplegic, 3, 617008 (3);617008;
ADRA2BEpilepsy, myoclonic, familial adult, 2, 607876 (3);607876;
AFG3L2Spastic ataxia 5, autosomal recessive, 614487 (3);Spinocerebellar ataxia 28, 610246 (3);614487;610246;
AGLGlycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3);232400;232400;
AGPSRhizomelic chondrodysplasia punctata, type 3, 600121 (3);600121;
AGRNMyasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3);615120;
AGTR2
AHSG?Alopecia-mental retardation syndrome 1, 203650 (3);203650;
AIPL1Cone-rod dystrophy, 604393 (3);Leber congenital amaurosis 4, 604393 (3);Retinitis pigmentosa, juvenile, 604393 (3);604393;604393;604393;
AKT1Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Cowden syndrome 6, 615109 (3);Ovarian cancer, somatic, 167000 (3);Proteus syndrome, somatic, 176920 (3);{Schizophrenia, susceptibility to}, 181500 (2);114480;114500;615109;167000;176920;181500;
ALDOBFructose intolerance, hereditary, 229600 (3);229600;
AMER1Osteopathia striata with cranial sclerosis, 300373 (3);300373;
ANK1Spherocytosis, type 1, 182900 (3);182900;
ANKLE2?Microcephaly 16, primary, autosomal recessive, 616681 (3);616681;
AP3B2Epileptic encephalopathy, early infantile, 48, 617276 (3);617276;
APC2?Sotos syndrome 3, 617169 (3);617169;
APOL2{Schizophrenia}, 181500 (1);181500;
APOL4{Schizophrenia}, 181500 (1);181500;
APPAlzheimer disease 1, familial, 104300 (3);Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3);104300;605714;
AQP2Diabetes insipidus, nephrogenic, 125800 (3);125800;
ARCN1Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3);617164;
ARHGDIANephrotic syndrome, type 8, 615244 (3);615244;
ARID2Coffin-Siris syndrome 6, 617808 (3);617808;
ARMC9Joubert syndrome 30, 617622 (3);617622;
ARNT2?Webb-Dattani syndrome, 615926 (3);615926;
ARSAMetachromatic leukodystrophy, 250100 (3);250100;
ARV1Epileptic encephalopathy, early infantile, 38, 617020 (3);617020;
ASCL1Central hypoventilation syndrome, congenital, 209880 (3);Haddad syndrome, 209880 (3);209880;209880;
ASS1Citrullinemia, 215700 (3);215700;
ASXL2Shashi-Pena syndrome, 617190 (3);617190;
ATAD1Hyperekplexia 4, 618011 (3);618011;
ATAD3AHarel-Yoon syndrome, 617183 (3);617183;
ATMAtaxia-telangiectasia, 208900 (3);Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3);{Breast cancer, susceptibility to}, 114480 (3);208900;114480;
ATN1Dentatorubro-pallidoluysian atrophy, 125370 (3);125370;
ATP13A2Kufor-Rakeb syndrome, 606693 (3);Spastic paraplegia 78, autosomal recessive, 617225 (3);606693;617225;
ATP6AP1Immunodeficiency 47, 300972 (3);300972;
ATP6V1ACutis laxa, autosomal recessive, type IID; Epileptic encephalopathy, infantile or early childhood, 3617403; 618012
ATP6V1E1Cutis laxa, autosomal recessive, type IIC, 617402 (3);617402;
AVPR2Diabetes insipidus, nephrogenic, 304800 (3);Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3);304800;300539;
B3GAT3Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3);245600;
B9D1?Meckel syndrome 9, 614209 (3);Joubert syndrome 27, 617120 (3);614209;617120;
BCKDKBranched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3);614923;
BCL11B?Immunodeficiency 49, 617237 (3);617237;
BCRLeukemia, acute lymphocytic, somatic, 613065 (3);Leukemia, chronic myeloid, somatic, 608232 (3);613065;608232;
BDNF
BIN1Centronuclear myopathy 2, 255200 (3);255200;
BMP2Brachydactyly, type A2, 112600 (3);Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3);{HFE hemochromatosis, modifier of}, 235200 (3);112600;617877;235200;
BMP4Microphthalmia, syndromic 6, 607932 (3);Orofacial cleft 11, 600625 (3);607932;600625;
BRCA2Fanconi anemia, complementation group D1, 605724 (3);Wilms tumor, 194070 (3);{Breast cancer, male, susceptibility to}, 114480 (3);{Breast-ovarian cancer, familial, 2}, 612555 (3);{Glioblastoma 3}, 613029 (3);{Medulloblastoma}, 155255 (3);{Pancreatic cancer 2}, 613347 (3);{Prostate cancer}, 176807 (3);605724;194070;114480;612555;613029;155255;613347;176807;
C19orf12?Spastic paraplegia 43, autosomal recessive, 615043 (3);Neurodegeneration with brain iron accumulation 4, 614298 (3);615043;614298;
CACNA1CBrugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3);611875;601005;
CACNA1DPrimary aldosteronism, seizures, and neurologic abnormalities, 615474 (3);Sinoatrial node dysfunction and deafness, 614896 (3);615474;614896;
CACNA2D1Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.PMID: 25074461
CACNB4Episodic ataxia, type 5, 613855 (3);{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3);{Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3);613855;607682;607682;
CADEpileptic encephalopathy, early infantile, 50, 616457 (3);616457;
CARS2Combined oxidative phosphorylation deficiency 27, 616672 (3);616672;
CCDC115Congenital disorder of glycosylation, type IIo, 616828 (3);616828;
CCDC88A?PEHO syndrome-like, 617507 (3);617507;
CCDC88C?Spinocerebellar ataxia 40, 616053 (3);Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3);616053;236600;
CD96C syndrome, 211750 (3);211750;
CDC42Takenouchi-Kosaki syndrome, 616737 (3);616737;
CDH11Elsahy-Waters syndrome, 211380 (3);211380;
CDH23Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3);{Pituitary adenoma 5, multiple types}, 617540 (3);601386;601067;601067;617540;
CDK5?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3);616342;
CDK6?Microcephaly 12, primary, autosomal recessive, 616080 (3);616080;
CENPE?Microcephaly 13, primary, autosomal recessive, 616051 (3);616051;
CEP104Joubert syndrome 25, 616781 (3);616781;
CEP120Joubert syndrome 31, 617761 (3);Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3);617761;616300;
CEP164Nephronophthisis 15, 614845 (3);614845;
CEP57Mosaic variegated aneuploidy syndrome 2, 614114 (3);614114;
CEP63?Seckel syndrome 6, 614728 (3);614728;
CERS1?Epilepsy, progressive myoclonic, 8, 616230 (3);616230;
CHATMyasthenic syndrome, congenital, 6, presynaptic, 254210 (3);254210;
CHI3L1{Asthma-related traits, susceptibility to, 7}, 611960 (3);{Schizophrenia, susceptibility to}, 181500 (3);611960;181500;
CHN1Duane retraction syndrome 2, 604356 (3);604356;
CHRDL1Megalocornea 1, X-linked 309300 (3);309300;
CHRNA715q13.3 recurrent region loss612001;
CISD2Wolfram syndrome 2, 604928 (3);604928;
CITMicrocephaly 17, primary, autosomal recessive, 617090 (3);617090;
CLCN2Leukoencephalopathy with ataxia, 615651 (3);{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3);{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3);{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3);615651;607628;607628;607628;
CLP1Pontocerebellar hypoplasia, type 10, 615803 (3);615803;
CLTCMental retardation, autosomal dominant 56, 617854 (3);617854;
CLTCL1
CNKSR2Mental retardation, X-linked, syndromic, Houge type, 301008 (3);301008;
CNPY3Epileptic encephalopathy, early infantile, 60, 617929 (3);617929;
COA5?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 (3);616500;
COA7?Mitochondrial complex IV deficiency, 220110 (3);220110;
COG2?Congenital disorder of glycosylation, type IIq, 617395 (3);617395;
COL13A1Myasthenic syndrome, congenital, 19, 616720 (3);616720;
COL18A1Knobloch syndrome, type 1, 267750 (3);267750;
COL25A1Fibrosis of extraocular muscles, congenital, 5, 616219 (3);616219;
COL3A1Ehlers-Danlos syndrome, vascular type, 130050 (3);130050;
COMT{Panic disorder, susceptibility to}, 167870 (3);{Schizophrenia, susceptibility to}, 181500 (3);167870;181500;
CORO1AImmunodeficiency 8, 615401 (3);615401;
COX14?Mitochondrial complex IV deficiency, 220110 (3);220110;
COX20Mitochondrial complex IV deficiency, 220110 (3);220110;
COX7BLinear skin defects with multiple congenital anomalies 2, 300887 (3);300887;
COX8A?Mitochondrial complex IV deficiency, 220110 (3);220110;
CPLANE1Joubert syndrome 17, 614615 (3);Orofaciodigital syndrome VI, 277170 (3);614615;277170;
CPLX1Epileptic encephalopathy, early infantile, 63, 617976 (3);617976;
CRB1Leber congenital amaurosis 8, 613835 (3);Pigmented paravenous chorioretinal atrophy, 172870 (3);Retinitis pigmentosa-12, autosomal recessive, 600105 (3);613835;172870;600105;
CRLF1Cold-induced sweating syndrome 1, 272430 (3);272430;
CRXCone-rod retinal dystrophy-2, 120970 (3);Leber congenital amaurosis 7, 613829 (3);120970;613829;
CTBP1Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3);617915;
CTC1Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3);612199;
CTHCystathioninuria, 219500 (3);Homocysteine, total plasma, elevated (3);219500;
CTNND2
CYP27A1Cerebrotendinous xanthomatosis, 213700 (3);213700;
DAO
DAOA{Schizophrenia}, 181500 (2);181500;
DCCColorectal cancer, somatic, 114500 (3);Esophageal carcinoma, somatic, 133239 (3);Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3);Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3);114500;133239;617542;157600;
DDB2Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3);278740;
DDOST?Congenital disorder of glycosylation, type Ir, 614507 (3);614507;
DENND5AEpileptic encephalopathy, early infantile, 49, 617281 (3);617281;
DHDDS?Congenital disorder of glycosylation, type 1bb, 613861 (3);Developmental delay and seizures with or without movement abnormalities, 617836 (3);Retinitis pigmentosa 59, 613861 (3);613861;617836;613861;
DIS3L2Perlman syndrome, 267000 (3);267000;
DISC1{Schizophrenia 9, susceptibility to}, 604906 (3);604906;
DLGAP2
DLL4Adams-Oliver syndrome 6, 616589 (3);616589;
DNAJC6Parkinson disease 19a, juvenile-onset, 615528 (3);Parkinson disease 19b, early-onset, 615528 (3);615528;615528;
DNM1LEncephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3);Optic atrophy 5, 610708 (3);614388;610708;
DOCK8Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3);243700;
DOLKCongenital disorder of glycosylation, type Im, 610768 (3);610768;
DPYSDihydropyrimidinuria, 222748 (3);222748;
DRD3{Essential tremor, hereditary, 1}, 190300 (3);{Schizophrenia, susceptibility to}, 181500 (3);190300;181500;
DSTYKCongenital anomalies of kidney and urinary tract 1, 610805 (3);Spastic paraplegia 23, 270750 (3);610805;270750;
EARS2Combined oxidative phosphorylation deficiency 12, 614924 (3);614924;
ECE1?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3);{Hypertension, essential, susceptibility to}, 145500 (3);613870;145500;
ECHS1Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3);616277;
ECM1Urbach-Wiethe disease, 247100 (3);247100;
EDN3Central hypoventilation syndrome, congenital, 209880 (3);Waardenburg syndrome, type 4B, 613265 (3);{Hirschsprung disease, susceptibility to, 4}, 613712 (3);209880;613265;613712;
EFHC1{Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3);{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3);607631;254770;
EIF2B1Leukoencephalopathy with vanishing white matter, 603896 (3);603896;
EIF2B2Leukoencephalopathy with vanishing white matter, 603896 (3);Ovarioleukodystrophy, 603896 (3);603896;603896;
EIF2B3Leukoencephalopathy with vanishing white matter, 603896 (3);603896;
EIF2B4Leukoencephalopathy with vanishing white matter, 603896 (3);Ovarioleukodystrophy, 603896 (3);603896;603896;
EIF2B5Leukoencephalopathy with vanishing white matter, 603896 (3);Ovarioleukodystrophy, 603896 (3);603896;603896;
EIF2S3MEHMO syndrome, 300148 (3);300148;
ELMO2Vascular malformation, primary intraosseous, 606893 (3);606893;
ELNCutis laxa, autosomal dominant, 123700 (3);Supravalvar aortic stenosis, 185500 (3);123700;185500;
ELP4?Aniridia 2, 617141 (3);617141;
EMG1Bowen-Conradi syndrome, 211180 (3);211180;
EML1Band heterotopia, 600348 (3);600348;
EOGTAdams-Oliver syndrome 4, 615297 (3);615297;
EPG5Vici syndrome, 242840 (3);242840;
ERCC1Cerebrooculofacioskeletal syndrome 4, 610758 (3);610758;
ERCC4?XFE progeroid syndrome, 610965 (3);Fanconi anemia, complementation group Q, 615272 (3);Xeroderma pigmentosum, group F, 278760 (3);Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3);610965;615272;278760;278760;
ERMARD?Periventricular nodular heterotopia 6, 615544 (3);615544;
EVC?Weyers acrofacial dysostosis, 193530 (3);Ellis-van Creveld syndrome, 225500 (3);193530;225500;
EVC2Ellis-van Creveld syndrome, 225500 (3);Weyers acrofacial dysostosis, 193530 (3);225500;193530;
EXT2?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3);Exostoses, multiple, type 2, 133701 (3);616682;133701;
EXTL3Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3);617425;
FAAH2
FAM111AGracile bone dysplasia, 602361 (3);Kenny-Caffey syndrome, type 2, 127000 (3);602361;127000;
FAM20AAmelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3);204690;
FASTKD2?Mitochondrial complex IV deficiency, 220110 (3);220110;
FGF12Epileptic encephalopathy, early infantile, 47, 617166 (3);617166;
FGF8Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3);612702;
FIG4?Polymicrogyria, bilateral temporooccipital, 612691 (3);Amyotrophic lateral sclerosis 11, 612577 (3);Charcot-Marie-Tooth disease, type 4J, 611228 (3);Yunis-Varon syndrome, 216340 (3);612691;612577;611228;216340;
FLCNBirt-Hogg-Dube syndrome, 135150 (3);Colorectal cancer, somatic, 114500 (3);Pneumothorax, primary spontaneous, 173600 (3);Renal carcinoma, chromophobe, somatic, 144700 (3);135150;114500;173600;144700;
FLI1Bleeding disorder, platelet-type, 21, 617443 (3);617443;
FRG1
FRMPD4Mental retardation, X-linked 104, 300983 (3);300983;
FTLHyperferritinemia-cataract syndrome, 600886 (3);L-ferritin deficiency, dominant and recessive, 615604 (3);Neurodegeneration with brain iron accumulation 3, 606159 (3);600886;615604;606159;
G6PDHemolytic anemia, G6PD deficient (favism), 300908 (3);{Resistance to malaria due to G6PD deficiency}, 611162 (3);300908;611162;
GABBR2Epileptic encephalopathy, early infantile, 59, 617904 (3);Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3);{Nicotine dependence, protection against}, 188890 (3);{Nicotine dependence, susceptibility to}, 188890 (3);617904;617903;188890;188890;
GABRB1Epileptic encephalopathy, early infantile, 45, 617153 (3);617153;
GABRB2Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3);617829;
GABRD{Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3);{Epilepsy, idiopathic generalized, 10}, 613060 (3);{Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3);613060;613060;613060;
GATA3Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3);146255;
GATA4?Testicular anomalies with or without congenital heart disease, 615542 (3);Atrial septal defect 2, 607941 (3);Atrioventricular septal defect 4, 614430 (3);Tetralogy of Fallot, 187500 (3);Ventricular septal defect 1, 614429 (3);615542;607941;614430;187500;614429;
GATA6Atrial septal defect 9, 614475 (3);Atrioventricular septal defect 5, 614474 (3);Pancreatic agenesis and congenital heart defects, 600001 (3);Persistent truncus arteriosus, 217095 (3);Tetralogy of Fallot, 187500 (3);614475;614474;600001;217095;187500;
GBAGaucher disease, perinatal lethal, 608013 (3);Gaucher disease, type I, 230800 (3);Gaucher disease, type II, 230900 (3);Gaucher disease, type III, 231000 (3);Gaucher disease, type IIIC, 231005 (3);{Lewy body dementia, susceptibility to}, 127750 (3);{Parkinson disease, late-onset, susceptibility to}, 168600 (3);608013;230800;230900;231000;231005;127750;168600;
GCDHGlutaricaciduria, type I, 231670 (3);231670;
GCM2Hyperparathyroidism 4, 617343 (3);Hypoparathyroidism, familial isolated, 146200 (3);617343;146200;
GDF6Klippel-Feil syndrome 1, autosomal dominant, 118100 (3);Leber congenital amaurosis 17, 615360 (3);Microphthalmia with coloboma 6, digenic, 613703 (3);Microphthalmia, isolated 4, 613094 (3);Multiple synostoses syndrome 4, 617898 (3);118100;615360;613703;613094;617898;
GDNFCentral hypoventilation syndrome, 209880 (3);{Hirschsprung disease, susceptibility to, 3}, 613711 (3);{Pheochromocytoma, modifier of}, 171300 (3);209880;613711;171300;
GFM1Combined oxidative phosphorylation deficiency 1, 609060 (3);609060;
GJA1Atrioventricular septal defect 3, 600309 (3);Craniometaphyseal dysplasia, autosomal recessive, 218400 (3);Erythrokeratodermia variabilis et progressiva 3, 617525 (3);Hypoplastic left heart syndrome 1, 241550 (3);Oculodentodigital dysplasia, 164200 (3);Oculodentodigital dysplasia, autosomal recessive, 257850 (3);Palmoplantar keratoderma with congenital alopecia, 104100 (3);Syndactyly, type III, 186100 (3);600309;218400;617525;241550;164200;257850;104100;186100;
GLULGlutamine deficiency, congenital, 610015 (3);610015;
GNAQCapillary malformations, congenital, 1, somatic, mosaic, 163000 (3);Sturge-Weber syndrome, somatic, mosaic, 185300 (3);163000;185300;
GNB5Intellectual developmental disorder with cardiac arrhythmia, 617173 (3);Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3);617173;617182;
GNENonaka myopathy, 605820 (3);Sialuria, 269921 (3);605820;269921;
GP1BBBernard-Soulier syndrome, type B, 231200 (3);Giant platelet disorder, isolated, 231200 (3);231200;231200;
GPAA1Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3);617810;
GPC4
GPSM2Chudley-McCullough syndrome, 604213 (3);604213;
GRIA4Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3);617864;
GRIN2DEpileptic encephalopathy, early infantile, 46, 617162 (3);617162;
GRPR
GUCY2D?Central areolar choroidal dystrophy 1, 215500 (3);Cone-rod dystrophy 6, 601777 (3);Leber congenital amaurosis 1, 204000 (3);215500;601777;204000;
GUF1?Epileptic encephalopathy, early infantile, 40, 617065 (3);617065;
GYS2Glycogen storage disease 0, liver, 240600 (3);240600;
HADHAFatty liver, acute, of pregnancy, 609016 (3);HELLP syndrome, maternal, of pregnancy, 609016 (3);LCHAD deficiency, 609016 (3);Trifunctional protein deficiency, 609015 (3);609016;609016;609016;609015;
HADHBTrifunctional protein deficiency, 609015 (3);609015;
HECW2Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3);617268;
HFE{HFE hemochromatosis, modifier of}, 235200 (3);Hemochromatosis, 235200 (3);[Transferrin serum level QTL2], 614193 (3);{Alzheimer disease, susceptibility to}, 104300 (3);{HFE hemochromatosis, modifier of}, 235200 (3);{Microvascular complications of diabetes 7}, 612635 (3);{Porphyria cutanea tarda, susceptibility to}, 176100 (3);{Porphyria variegata, susceptibility to}, 176200 (3);235200;235200;614193;104300;235200;612635;176100;176200;
HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3);Retinitis pigmentosa 73, 616544 (3);252930;616544;
HIBCH3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3);250620;
HMBSPorphyria, acute intermittent, 176000 (3);Porphyria, acute intermittent, nonerythroid variant, 176000 (3);176000;176000;
HMGCLHMG-CoA lyase deficiency, 246450 (3);246450;
HNF1ADiabetes mellitus, insulin-dependent, 20, 612520 (3);Hepatic adenoma, somatic, 142330 (3);MODY, type III, 600496 (3);Renal cell carcinoma, 144700 (3);{Diabetes mellitus, insulin-dependent}, 222100 (3);{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3);612520;142330;600496;144700;222100;125853;
HNF1BDiabetes mellitus, noninsulin-dependent, 125853 (3);Renal cysts and diabetes syndrome, 137920 (3);{Renal cell carcinoma}, 144700 (3);125853;137920;144700;
HNF4AFanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3);MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3);616026;125850;125853;
HNRNPH2Mental retardation, X-linked, syndromic, Bain type, 300986 (3);300986;
HTR2A{Alcohol dependence, susceptibility to}, 103780 (3);{Anorexia nervosa, susceptibility to}, 606788 (3);{Major depressive disorder, response to citalopram therapy in}, 608516 (3);{Obsessive-compulsive disorder, susceptibility to}, 164230 (3);{Schizophrenia, susceptibility to}, 181500 (3);{Seasonal affective disorder, susceptibility to}, 608516 (3);103780;606788;608516;164230;181500;608516;
HTTHuntington disease, 143100 (3);Lopes-Maciel-Rodan syndrome, 617435 (3);{Anxiety-related personality traits}, 607834 (3);{Obsessive-compulsive disorder}, 164230 (3);143100;617435;607834;164230;
HYLS1Hydrolethalus syndrome, 236680 (3);236680;
ICKEndocrine-cerebroosteodysplasia, 612651 (3);{Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3);612651;617924;
IFNG{AIDS, rapid progression to}, 609423 (3);{Aplastic anemia}, 609135 (3);{Hepatitis C virus, response to therapy of}, 609532 (3);{TSC2 angiomyolipomas, renal, modifier of}, 613254 (3);{Tuberculosis, protection against}, 607948 (3);609423;609135;609532;613254;607948;
IFT140Retinitis pigmentosa 80, 617781 (3);Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3);617781;266920;
IMPA1Mental retardation, autosomal recessive 59, 617323 (3);617323;
IMPDH1Leber congenital amaurosis 11, 613837 (3);Retinitis pigmentosa 10, 180105 (3);613837;180105;
INPP5KMuscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3);617404;
INSDiabetes mellitus, insulin-dependent, 2, 125852 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperproinsulinemia, 616214 (3);Maturity-onset diabetes of the young, type 10, 613370 (3);125852;606176;616214;613370;
INSRDiabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3);Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3);Leprechaunism, 246200 (3);Rabson-Mendenhall syndrome, 262190 (3);610549;609968;246200;262190;
IPW
IQCB1Senior-Loken syndrome 5, 609254 (3);609254;
ITGB6Amelogenesis imperfecta, type IH, 616221 (3);616221;
ITPAEpileptic encephalopathy, early infantile, 35, 616647 (3);[Inosine triphosphatase deficiency], 613850 (3);616647;613850;
KARS?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3);Deafness, autosomal recessive 89, 613916 (3);613641;613916;
KCNJ1Bartter syndrome, type 2, 241200 (3);241200;
KCNJ13Leber congenital amaurosis 16, 614186 (3);Snowflake vitreoretinal degeneration, 193230 (3);614186;193230;
KCNQ1Atrial fibrillation, familial, 3, 607554 (3);Jervell and Lange-Nielsen syndrome, 220400 (3);Long QT syndrome 1, 192500 (3);Short QT syndrome 2, 609621 (3);{Long QT syndrome 1, acquired, susceptibility to}, 192500 (3);607554;220400;192500;609621;192500;
KIAA0556Joubert syndrome 26, 616784 (3);616784;
KIAA0586Joubert syndrome 23, 616490 (3);Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3);616490;616546;
KIAA1109Alkuraya-Kucinskas syndrome, 617822 (3);617822;
KIF5AMyoclonus, intractable, neonatal, 617235 (3);Spastic paraplegia 10, autosomal dominant, 604187 (3);{Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3);617235;604187;617921;
KLHL15Mental retardation, X-linked 103, 300982 (3);300982;
KLHL7Cold-induced sweating syndrome 3, 617055 (3);Retinitis pigmentosa 42, 612943 (3);617055;612943;
KLLNCowden syndrome 4, 615107 (3);615107;
LAGE3Galloway-Mowat syndrome 2, X-linked, 301006 (3);301006;
LAMB1Lissencephaly 5, 615191 (3);615191;
LARS?Infantile liver failure syndrome 1, 615438 (3);615438;
LAS1LWilson-Turner syndrome, 309585 (3);309585;
LBR?Reynolds syndrome, 613471 (3);Greenberg skeletal dysplasia, 215140 (3);Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3);Pelger-Huet anomaly, 169400 (3);613471;215140;618019;169400;
LCA5Leber congenital amaurosis 5, 604537 (3);604537;
LETM1
LHX4Pituitary hormone deficiency, combined, 4, 262700 (3);262700;
LMBRD1Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3);277380;
LMNACardiomyopathy, dilated, 1A, 115200 (3);Charcot-Marie-Tooth disease, type 2B1, 605588 (3);Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3);Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3);Heart-hand syndrome, Slovenian type, 610140 (3);Hutchinson-Gilford progeria, 176670 (3);Lipodystrophy, familial partial, type 2, 151660 (3);Malouf syndrome, 212112 (3);Mandibuloacral dysplasia, 248370 (3);Muscular dystrophy, congenital, 613205 (3);Muscular dystrophy, limb-girdle, type 1B, 159001 (3);Restrictive dermopathy, lethal, 275210 (3);115200;605588;181350;616516;610140;176670;151660;212112;248370;613205;159001;275210;
LMNB2?Epilepsy, progressive myoclonic, 9, 616540 (3);{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3);616540;608709;
LRATLeber congenital amaurosis 14, 613341 (3);Retinal dystrophy, early-onset severe, 613341 (3);Retinitis pigmentosa, juvenile, 613341 (3);613341;613341;613341;
LRP1?Keratosis pilaris atrophicans, 604093 (3);604093;
LYSTChediak-Higashi syndrome, 214500 (3);214500;
MAFAyme-Gripp syndrome, 601088 (3);Cataract 21, multiple types, 610202 (3);601088;610202;
MAFBDuane retraction syndrome 3, 617041 (3);Multicentric carpotarsal osteolysis syndrome, 166300 (3);617041;166300;
MAGI2Nephrotic syndrome 15, 617609 (3);617609;
MAOB
MAPK10
MAPTDementia, frontotemporal, with or without parkinsonism, 600274 (3);Pick disease, 172700 (3);Supranuclear palsy, progressive atypical, 260540 (3);Supranuclear palsy, progressive, 601104 (3);{Parkinson disease, susceptibility to}, 168600 (3);600274;172700;260540;601104;168600;
MBOAT7Mental retardation, autosomal recessive 57, 617188 (3);617188;
MCM8?Premature ovarian failure 10, 612885 (3);612885;
MDH2Epileptic encephalopathy, early infantile, 51, 617339 (3);617339;
MED25?Charcot-Marie-Tooth disease, type 2B2, 605589 (3);Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3);605589;616449;
MEIS2Cleft palate, cardiac defects, and mental retardation, 600987 (3);600987;
MFFEncephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3);617086;
MFSD2AMicrocephaly 15, primary, autosomal recessive, 616486 (3);616486;
MGPKeutel syndrome, 245150 (3);245150;
MIPEPCombined oxidative phosphorylation deficiency 31, 617228 (3);617228;
MKRN3Precocious puberty, central, 2, 615346 (3);615346;
MKS1Bardet-Biedl syndrome 13, 615990 (3);Joubert syndrome 28, 617121 (3);Meckel syndrome 1, 249000 (3);615990;617121;249000;
MLH1Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3);Mismatch repair cancer syndrome, 276300 (3);Muir-Torre syndrome, 158320 (3);609310;276300;158320;
MPC1Mitochondrial pyruvate carrier deficiency, 614741 (3);614741;
MPOMyeloperoxidase deficiency, 254600 (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Lung cancer, protection against, in smokers} (3);254600;104300;
MSH2Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3);Mismatch repair cancer syndrome, 276300 (3);Muir-Torre syndrome, 158320 (3);120435;276300;158320;
MSH6Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3);Endometrial cancer, familial, 608089 (3);Mismatch repair cancer syndrome, 276300 (3);614350;608089;276300;
MSX2Craniosynostosis 2, 604757 (3);Parietal foramina 1, 168500 (3);Parietal foramina with cleidocranial dysplasia, 168550 (3);604757;168500;168550;
MTFMTCombined oxidative phosphorylation deficiency 15, 614947 (3);614947;
MTM1Myotubular myopathy, X-linked, 310400 (3);310400;
MTO1Combined oxidative phosphorylation deficiency 10, 614702 (3);614702;
MYH10
MYH11Aortic aneurysm, familial thoracic 4, 132900 (3);132900;
MYH3Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3);Arthrogryposis, distal, type 8, 178110 (3);193700;601680;178110;
NACC1Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3);617393;
NADK2?2,4-dienoyl-CoA reductase deficiency, 616034 (3);616034;
NARS2Combined oxidative phosphorylation deficiency 24, 616239 (3);616239;
NAT8L?N-acetylaspartate deficiency, 614063 (3);614063;
NDNPrader-Willi syndrome, 176270 (3);176270;
NDUFA10Leigh syndrome, 256000 (3);256000;
NDUFA2Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3);256000;
NDUFA9Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3);256000;
NDUFAF6Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3);256000;
NDUFB11?Mitochondrial complex I deficiency, 252010 (3);Linear skin defects with multiple congenital anomalies 3, 300952 (3);252010;300952;
NECTIN1Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3);Orofacial cleft 7, 225060 (3);225060;225060;
NF2Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, somatic, 162091 (3);607174;101000;162091;
NFKB2Immunodeficiency, common variable, 10, 615577 (3);615577;
NIN?Seckel syndrome 7, 614851 (3);614851;
NMNAT1Leber congenital amaurosis 9, 608553 (3);608553;
NOS3{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);{Coronary artery spasm 1, susceptibility to} (3);{Hypertension, pregnancy-induced}, 189800 (3);{Hypertension, susceptibility to}, 145500 (3);{Ischemic stroke, susceptibility to}, 601367 (3);{Placental abruption} (3);104300;to};189800;145500;601367;
NOTCH1Adams-Oliver syndrome 5, 616028 (3);Aortic valve disease 1, 109730 (3);616028;109730;
NOTCH2Alagille syndrome 2, 610205 (3);Hajdu-Cheney syndrome, 102500 (3);610205;102500;
NOTCH3?Myofibromatosis, infantile 2, 615293 (3);Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3);Lateral meningocele syndrome, 130720 (3);615293;125310;130720;
NPAP1
NPC1Niemann-Pick disease, type C1, 257220 (3);Niemann-Pick disease, type D, 257220 (3);{Nasopharyngeal carcinoma 1} (2);257220;257220;
NPC2Niemann-pick disease, type C2, 607625 (3);607625;
NPRL2Epilepsy, familial focal, with variable foci 2, 617116 (3);617116;
NPRL3Epilepsy, familial focal, with variable foci 3, 617118 (3);617118;
NTRK2Epileptic encephalopathy, early infantile, 58, 617830 (3);Obesity, hyperphagia, and developmental delay, 613886 (3);617830;613886;
NUP107Nephrotic syndrome, type 11, 616730 (3);616730;
NUS1?Congenital disorder of glycosylation, type 1aa, 617082 (3);Mental retardation, autosomal dominant 55, with seizures, 617831 (3);617082;617831;
ORAI1Immunodeficiency 9, 612782 (3);Myopathy, tubular aggregate, 2, 615883 (3);612782;615883;
OSGEPGalloway-Mowat syndrome 3, 617729 (3);617729;
OTUD6BIntellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3);617452;
OTX2Microphthalmia, syndromic 5, 610125 (3);Pituitary hormone deficiency, combined, 6, 613986 (3);Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3);610125;613986;610125;
PARNDyskeratosis congenita, autosomal recessive 6, 616353 (3);Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3);616353;616371;
PARS2
PAX2Glomerulosclerosis, focal segmental, 7, 616002 (3);Papillorenal syndrome, 120330 (3);616002;120330;
PCCAPropionicacidemia, 606054 (3);606054;
PCCBPropionicacidemia, 606054 (3);606054;
PCDH12Microcephaly, seizures, spasticity, and brain calcification, 251280 (3);251280;
PCK1?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3);261680;
PCLO?Pontocerebellar hypoplasia, type 3, 608027 (3);608027;
PCYT1ASpondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3);608940;
PDE10ADyskinesia, limb and orofacial, infantile-onset, 616921 (3);Striatal degeneration, autosomal dominant, 616922 (3);616921;616922;
PDGFRBBasal ganglia calcification, idiopathic, 4, 615007 (3);Kosaki overgrowth syndrome, 616592 (3);Myeloproliferative disorder with eosinophilia, 131440 (4);Myofibromatosis, infantile, 1, 228550 (3);Premature aging syndrome, Penttinen type, 601812 (3);615007;616592;131440;228550;601812;
PDHXLacticacidemia due to PDX1 deficiency, 245349 (3);245349;
PGM3Immunodeficiency 23, 615816 (3);615816;
PHKG2Cirrhosis due to liver phosphorylase kinase deficiency (3);Glycogen storage disease IXc, 613027 (3);deficiency;613027;
PHOX2BCentral hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3);Neuroblastoma with Hirschsprung disease, 613013 (3);{Neuroblastoma, susceptibility to, 2}, 613013 (3);209880;613013;613013;
PIBF1Joubert syndrome 33, 617767 (3);617767;
PIEZO1Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3);Lymphedema, hereditary, III, 616843 (3);194380;616843;
PIEZO2?Marden-Walker syndrome, 248700 (3);Arthrogryposis, distal, type 3, 114300 (3);Arthrogryposis, distal, type 5, 108145 (3);Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3);248700;114300;108145;617146;
PIGCGlycosylphosphatidylinositol biosynthesis defect 16, 617816 (3);617816;
PIGMGlycosylphosphatidylinositol deficiency, 610293 (3);610293;
PIGWGlycosylphosphatidylinositol biosynthesis defect 11, 616025 (3);616025;
PIK3CABreast cancer, somatic, 114480 (3);CLOVE syndrome, somatic, 612918 (3);Colorectal cancer, somatic, 114500 (3);Cowden syndrome 5, 615108 (3);Gastric cancer, somatic, 613659 (3);Hepatocellular carcinoma, somatic, 114550 (3);Keratosis, seborrheic, somatic, 182000 (3);Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3);Nevus, epidermal, somatic, 162900 (3);Nonsmall cell lung cancer, somatic, 211980 (3);Ovarian cancer, somatic, 167000 (3);114480;612918;114500;615108;613659;114550;182000;602501;162900;211980;167000;
PLAGL1{Diabetes mellitus, transient neonatal}, 601410 (1);601410;
PLAUQuebec platelet disorder, 601709 (3);{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);601709;104300;
PLEKHG2Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3);616763;
PLGDysplasminogenemia, 217090 (3);Plasminogen deficiency, type I, 217090 (3);217090;217090;
PLK4Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3);616171;
PMS2Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3);Mismatch repair cancer syndrome, 276300 (3);614337;276300;
POLA1Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3);301220;
POLG2Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3);610131;
PPP1R15BMicrocephaly, short stature, and impaired glucose metabolism 2, 616817 (3);616817;
PPP3CAEpileptic encephalopathy, infantile or early childhood, 1, 617711 (3);617711;
PRDM16Cardiomyopathy, dilated, 1LL, 615373 (3);Left ventricular noncompaction 8, 615373 (3);615373;615373;
PRDX1Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400 (3);277400;
PREPL?Myasthenic syndrome, congenital, 22, 616224 (3);616224;
PRF1Aplastic anemia, 609135 (3);Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3);Lymphoma, non-Hodgkin, 605027 (3);609135;603553;605027;
PRKDCImmunodeficiency 26, with or without neurologic abnormalities, 615966 (3);615966;
PRMT7Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3);617157;
PRNPCerebral amyloid angiopathy, PRNP-related, 137440 (3);Creutzfeldt-Jakob disease, 123400 (3);Gerstmann-Straussler disease, 137440 (3);Huntington disease-like 1, 603218 (3);Insomnia, fatal familial, 600072 (3);Prion disease with protracted course, 606688 (3);{Kuru, susceptibility to}, 245300 (3);137440;123400;137440;603218;600072;606688;245300;
PROCThrombophilia due to protein C deficiency, autosomal dominant, 176860 (3);Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3);176860;612304;
PROKR2Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3);244200;
PROP1Pituitary hormone deficiency, combined, 2, 262600 (3);262600;
PROSCEpilepsy, early-onset, vitamin B6-dependent, 617290 (3);617290;
PSAT1?Phosphoserine aminotransferase deficiency, 610992 (3);Neu-Laxova syndrome 2, 616038 (3);610992;616038;
PSMB8Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3);256040;
PSPHPhosphoserine phosphatase deficiency, 614023 (3);614023;
PTHHypoparathyroidism, autosomal dominant, 146200 (3);Hypoparathyroidism, autosomal recessive, 146200 (3);146200;146200;
PWAR1
RAC1Mental retardation, autosomal dominant 48, 617751 (3);617751;
RANBP2{Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3);608033;
RBFOX1
RBM8AThrombocytopenia-absent radius syndrome, 274000 (3);274000;
RD3Leber congenital amaurosis 12, 610612 (3);610612;
RDH12Leber congenital amaurosis 13, 612712 (3);612712;
RECQL4Baller-Gerold syndrome, 218600 (3);RAPADILINO syndrome, 266280 (3);Rothmund-Thomson syndrome, 268400 (3);218600;266280;268400;
RESTFibromatosis, gingival, 5, 617626 (3);{Wilms tumor 6, susceptibility to}, 616806 (3);617626;616806;
RETCentral hypoventilation syndrome, congenital, 209880 (3);Medullary thyroid carcinoma, 155240 (3);Multiple endocrine neoplasia IIA, 171400 (3);Multiple endocrine neoplasia IIB, 162300 (3);Pheochromocytoma, 171300 (3);{Hirschsprung disease, protection against}, 142623 (3);{Hirschsprung disease, susceptibility to, 1}, 142623 (3);209880;155240;171400;162300;171300;142623;142623;
RNF125Tenorio syndrome, 616260 (3);616260;
RNF213{Moyamoya disease 2, susceptibility to}, 607151 (3);607151;
RPE65Leber congenital amaurosis 2, 204100 (3);Retinitis pigmentosa 20, 613794 (3);204100;613794;
RPGRIP1Cone-rod dystrophy 13, 608194 (3);Leber congenital amaurosis 6, 613826 (3);608194;613826;
RPIA?Ribose 5-phosphate isomerase deficiency, 608611 (3);608611;
RTN4IP1Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3);616732;
RTN4R{Schizophrenia, susceptibility to}, 181500 (3);181500;
RXYLT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3);615041;
RYR1Central core disease, 117000 (3);King-Denborough syndrome, 145600 (3);Minicore myopathy with external ophthalmoplegia, 255320 (3);Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3);{Malignant hyperthermia susceptibility 1}, 145600 (3);117000;145600;255320;117000;145600;
SACSSpastic ataxia, Charlevoix-Saguenay type, 270550 (3);270550;
SAMD9MIRAGE syndrome, 617053 (3);Tumoral calcinosis, familial, normophosphatemic, 610455 (3);617053;610455;
SARDH[Sarcosinemia], 268900 (3);268900;
SARS{SARS, progression of} (3);?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, 617709 (3);SARS infection, protection against (2);{SARS, progression of} (3);617709;
SASS6?Microcephaly 14, primary, autosomal recessive, 616402 (3);616402;
SCN3AEpilepsy, familial focal, with variable foci 4, 617935 (3);Epileptic encephalopathy, early infantile, 62, 617938 (3);617935;617938;
SCN4AHyperkalemic periodic paralysis, type 2, 170500 (3);Hypokalemic periodic paralysis, type 2, 613345 (3);Myasthenic syndrome, congenital, 16, 614198 (3);Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3);Paramyotonia congenita, 168300 (3);170500;613345;614198;608390;168300;
SCN9AEpilepsy, generalized, with febrile seizures plus, type 7, 613863 (3);Erythermalgia, primary, 133020 (3);Febrile seizures, familial, 3B, 613863 (3);HSAN2D, autosomal recessive, 243000 (3);Insensitivity to pain, congenital, 243000 (3);Paroxysmal extreme pain disorder, 167400, (3);Small fiber neuropathy, 133020 (3);{Dravet syndrome, modifier of}, 607208 (3);613863;133020;613863;243000;243000;167400,;133020;607208;
SCO1Mitochondrial complex IV deficiency, 220110 (3);220110;
SDHBCowden syndrome 2, 612359 (3);Gastrointestinal stromal tumor, 606764 (3);Paraganglioma and gastric stromal sarcoma, 606864 (3);Paragangliomas 4, 115310 (3);Pheochromocytoma, 171300 (3);612359;606764;606864;115310;171300;
SDHCGastrointestinal stromal tumor, 606764 (3);Paraganglioma and gastric stromal sarcoma, 606864 (3);Paragangliomas 3, 605373 (3);606764;606864;605373;
SDHDCarcinoid tumors, intestinal, 114900 (3);Cowden syndrome 3, 615106 (3);Merkel cell carcinoma, somatic (3);Mitochondrial complex II deficiency, 252011 (3);Paraganglioma and gastric stromal sarcoma, 606864 (3);Paragangliomas 1, with or without deafness, 168000 (3);Pheochromocytoma, 171300 (3);114900;615106;252011;606864;168000;171300;
SEC23BCowden syndrome 7, 616858 (3);Dyserythropoietic anemia, congenital, type II, 224100 (3);616858;224100;
SLC12A1Bartter syndrome, type 1, 601678 (3);601678;
SLC12A5Epileptic encephalopathy, early infantile, 34, 616645 (3);{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3);616645;616685;
SLC18A3Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3);617239;
SLC19A2Thiamine-responsive megaloblastic anemia syndrome, 249270 (3);249270;
SLC1A2Epileptic encephalopathy, early infantile, 41, 617105 (3);617105;
SLC1A3Episodic ataxia, type 6, 612656 (3);612656;
SLC20A2Basal ganglia calcification, idiopathic, 1, 213600 (3);213600;
SLC25A19Microcephaly, Amish type, 607196 (3);Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3);607196;613710;
SLC25A20Carnitine-acylcarnitine translocase deficiency, 212138 (3);212138;
SLC25A46Neuropathy, hereditary motor and sensory, type VIB, 616505 (3);616505;
SLC26A4Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3);Pendred syndrome, 274600 (3);600791;274600;
SLC35A1Congenital disorder of glycosylation, type IIf, 603585 (3);603585;
SLC35A3?Arthrogryposis, mental retardation, and seizures, 615553 (3);615553;
SLC36A2Hyperglycinuria, 138500 (3);Iminoglycinuria, digenic, 242600 (3);138500;242600;
SLC3A1Cystinuria, 220100 (3);220100;
SLC45A1Intellectual developmental disorder with neuropsychiatric features, 617532 (3);617532;
SLC46A1Folate malabsorption, hereditary, 229050 (3);229050;
SLC4A10
SLC52A2Brown-Vialetto-Van Laere syndrome 2, 614707 (3);614707;
SLC52A3?Fazio-Londe disease, 211500 (3);Brown-Vialetto-Van Laere syndrome 1, 211530 (3);211500;211530;
SLC5A7Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3);Neuronopathy, distal hereditary motor, type VIIA, 158580 (3);617143;158580;
SLC6A19Hartnup disorder, 234500 (3);Hyperglycinuria, 138500 (3);Iminoglycinuria, digenic, 242600 (3);234500;138500;242600;
SLC6A20Hyperglycinuria, 138500 (3);Iminoglycinuria, digenic, 242600 (3);138500;242600;
SLC6A5Hyperekplexia 3, 614618 (3);614618;
SLC6A9Glycine encephalopathy with normal serum glycine, 617301 (3);617301;
SLC9A1?Lichtenstein-Knorr syndrome, 616291 (3);616291;
SLC9A9{?Autism susceptibility 16}, 613410 (3);613410;
SMARCAL1Schimke immunoosseous dysplasia, 242900 (3);242900;
SMG9Heart and brain malformation syndrome, 616920 (3);616920;
SNAP25?Myasthenic syndrome, congenital, 18, 616330 (3);616330;
SPASTSpastic paraplegia 4, autosomal dominant, 182601 (3);182601;
SPATA7Leber congenital amaurosis 3, 604232 (3);Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3);604232;604232;
SPINK5Netherton syndrome, 256500 (3);256500;
SPRDystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3);612716;
SRGAP2
SSR4Congenital disorder of glycosylation, type Iy, 300934 (3);300934;
STAT3Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3);Hyper-IgE recurrent infection syndrome, 147060 (3);615952;147060;
STRADAPolyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3);611087;
STSIchthyosis, X-linked, 308100 (3);308100;
STUB1Spinocerebellar ataxia, autosomal recessive 16, 615768 (3);615768;
STX11Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3);603552;
SUMF1Multiple sulfatase deficiency, 272200 (3);272200;
SYN2{Schizophrenia, susceptibility to}, 181500 (3);181500;
SYNJ1Epileptic encephalopathy, early infantile, 53, 617389 (3);Parkinson disease 20, early-onset, 615530 (3);617389;615530;
SYT2Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3);616040;
TACO1Mitochondrial complex IV deficiency, 220110 (3);220110;
TANGO2Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3);616878;
TBCDEncephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3);617193;
TBPSpinocerebellar ataxia 17, 607136 (3);{Parkinson disease, susceptibility to}, 168600 (3);607136;168600;
TBX1Conotruncal anomaly face syndrome, 217095 (3);DiGeorge syndrome, 188400 (3);Tetralogy of Fallot, 187500 (3);Velocardiofacial syndrome, 192430 (3);217095;188400;187500;192430;
TCTN1
TCTN2?Meckel syndrome 8, 613885 (3);Joubert syndrome 24, 616654 (3);613885;616654;
TECPR2Spastic paraplegia 49, autosomal recessive, 615031 (3);615031;
TGDSCatel-Manzke syndrome, 616145 (3);616145;
TIMMDC1Mitochondrial complex I deficiency, 252010 (3);252010;
TK2?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3);Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3);617069;609560;
TLR3{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3);{HIV1 infection, resistance to}, 609423 (3);613002;609423;
TMEM106BLeukodystrophy, hypomyelinating, 16, 617964 (3);617964;
TMEM126BMitochondrial complex I deficiency, 252010 (3);252010;
TMEM138Joubert syndrome 16, 614465 (3);614465;
TMEM216Joubert syndrome 2, 608091 (3);Meckel syndrome 2, 603194 (3);608091;603194;
TMTC3Lissencephaly 8, 617255 (3);617255;
TNK2
TOE1Pontocerebellar hypoplasia, type 7, 614969 (3);614969;
TP53RKGalloway-Mowat syndrome 4, 617730 (3);617730;
TPK1Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3);614458;
TPRKBGalloway-Mowat syndrome 5, 617731 (3);617731;
TRAPPC6BNeurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 (3);617862;
TRIP13Mosaic variegated aneuploidy syndrome 3, 617598 (3);617598;
TRNT1Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3);Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3);616959;616084;
TRPV3?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3);Olmsted syndrome, 614594 (3);616400;614594;
TSEN15Pontocerebellar hypoplasia, type 2F, 617026 (3);617026;
TSFMCombined oxidative phosphorylation deficiency 3, 610505 (3);610505;
TULP1Leber congenital amaurosis 15, 613843 (3);Retinitis pigmentosa 14, 600132 (3);613843;600132;
TXN2?Combined oxidative phosphorylation deficiency 29, 616811 (3);616811;
UBA1Spinal muscular atrophy, X-linked 2, infantile, 301830 (3);301830;
UBA5?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3);Epileptic encephalopathy, early infantile, 44, 617132 (3);617133;617132;
UBBCleft palate, isolated, 119540 (2);119540;
UCP2{Obesity, susceptibility to, BMIQ4}, 607447 (3);607447;
UGT1A1Crigler-Najjar syndrome, type I, 218800 (3);Crigler-Najjar syndrome, type II, 606785 (3);Hyperbilirubinemia, familial transient neonatal, 237900 (3);[Bilirubin, serum level of, QTL1], 601816 (3);[Gilbert syndrome], 143500 (3);218800;606785;237900;601816;143500;
UQCC2?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3);615824;
UQCC3?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3);616111;
VAMP1Spastic ataxia 1, autosomal dominant, 108600 (3);108600;
VARSNeurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3);617802;
VARS2Combined oxidative phosphorylation deficiency 20, 615917 (3);Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3);615917;617802;
VCPAmyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3);Charcot-Marie-Tooth disease, type 2Y, 616687 (3);Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3);613954;616687;167320;
VPS11Leukodystrophy, hypomyelinating, 12, 616683 (3);616683;
WARS2Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3);617710;
WDR11Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3);614858;
WFS1?Cataract 41, 116400 (3);Deafness, autosomal dominant 6/14/38, 600965 (3);Wolfram syndrome 1, 222300 (3);Wolfram-like syndrome, autosomal dominant, 614296 (3);{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3);116400;600965;222300;614296;125853;
XPCXeroderma pigmentosum, group C, 278720 (3);278720;
YWHAGEpileptic encephalopathy, early infantile, 56, 617665 (3);617665;
ZC4H2Wieacker-Wolff syndrome, 314580 (3);314580;
ZFP57Diabetes mellitus, transient neonatal, 1, 601410 (3);601410;
ZNF423Joubert syndrome 19, 614844 (3);Nephronophthisis 14, 614844 (3);614844;614844;
ZNHIT3PEHO syndrome, 260565 (3);260565;

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How to order a test
  1. Identify the adequate test from our service catalogue.
  2. Prepare the test application form and fill in all the information available both for the sample and the clinical record to guarantee highest quality of test results and shortest response time.
  3. It is crucial to correctly identify the sample with patient name or identifier and date of birth.
  4. Print the completed application form and sign it.
  5. Collect the required sample quantity.
  6. Properly prepare the sample shipment along with the application form.
  7. Alternatively, the order can be processed conveniently via our online order platform.
Required specifications for biologic samples
  • Blood – 1 EDTA tube with 3-5 ml (children 1ml minimum)
  • Purified DNA – usually >5 ug, at >50 ng/ul
  • Saliva or buccal swab – Request collection kit
  • Blood on filter paper – A minimum of 10 spots on Guthrie card or filter paper
  • Amniotic fluid – Minimum of 10 ml
  • CVS – Minimum of 2-3 villi
  • Cord blood – Minimum 1 ml
  • Cultured cells – 1 vial of 25 ml, minimum 80% confluence
  • Biopsy or fresh tissue – More than 10 mg of tissue
  • Paraffin-embedded tissue – At least 10 cuts of 20 um
  • cfDNA – 1 tube DNA BCT Streck with 10 ml of blood
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How to prepare your sample for shipping?

  • Blood-EDTA, purified DNA, saliva, blood on paper, cord blood, biopsy, … are stable at room temperature for 3 or 4 days. Samples can be sent, adequately protected, by ordinary mail or courier.
  • Amniotic fluid (a minimum of 10 ml collected in a sterile falcon test tube). Can be sent at room temperature and low temperatures should be avoided. Samples should reach our laboratory in no more than 24 hours.
  • Chorionic villi samples must travel in the same way, in a tube with conical bottom FILLED TO CAPACITY with PBS or culture medium.
  • Cultured cells should be shipped at room temperature, in a culture flask filled to capacity with culture medium.
  • Blood for cfDNA analysis: must be shipped at room temperature.